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1.
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1098321

RESUMO

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.


La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Anormalidades Múltiplas , Ectromelia/complicações , Ectromelia/diagnóstico , Doenças Fetais/diagnóstico , Canal Anal/anormalidades , Síndrome , Traqueia/anormalidades , Evolução Fatal , Esôfago/anormalidades , Rim/anormalidades
2.
Arch. argent. pediatr ; 118(1): 52-56, 2020-02-00. tab, ilus
Artigo em Inglês, Espanhol | LILACS (Américas), BINACIS | ID: biblio-1095588

RESUMO

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.


The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), Williams-Beuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Transtornos do Neurodesenvolvimento/diagnóstico , Doenças Genéticas Inatas/diagnóstico , Síndrome , Algoritmos , Deficiências do Desenvolvimento , Estudos Retrospectivos , Hibridização in Situ Fluorescente , Procedimentos Clínicos , Transtornos do Neurodesenvolvimento/etiologia , Aconselhamento Genético
6.
Annals of Health Research; 6(2), Journal Article, 2020
em Inglês | AIM (África) | ID: afr-201844

RESUMO

In late December 2019, there was an outbreak of a new Coronavirus infection in Wuhan, Hubei Province, China, which caused acute respiratory syndrome of unknown aetiology. The World Health Organization (WHO) named the virus Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV2) or COVID-19 and declared the infection a pandemic on the 11th of March 2020. The first case of COVID-19 in Nigeria was reported on the 27th of February 2020 and since then the numbers of confirmed cases has been on the increase, at least in Nigeria. With no vaccine or cure in sight, only public health measures that include personal protective measures, physical distancing, environmental and travel-related measures have been recommended to mitigate and contain the spread of the disease. There is need to make testing for COVID-19 widely available so that the true burden of the infection will be described. This step should assist policy makers in making evidence-based decisions in the prevention and control of the disease.


Assuntos
Coronavirus , Infecções/epidemiologia , Infecções/transmissão , Síndrome , Nigéria
7.
Rev. Cient. CRO-RJ (Online) ; 4(2): 42-45, May-Aug. 2019.
Artigo em Inglês | LILACS (Américas), BBO | ID: biblio-1024856

RESUMO

Objective: The aim of this article was to describe a case of Robinow syndrome in a pediatric patient. Case Report: Clinically, the patient had frontal bossing, flat facial profile with macrocephaly, midfacial hypoplasia, hypertelorism, wide palpebral fissures, triangular mouth, short upturned nose, short philtrum, ankyloglossia, prolonged retention of primary teeth and abnormal aligment of teeth. The radiographic exams indicated the presence of three impacted permanent supernumerary teeth, agenesis of eight permanent teeth and dental root shortening of all permanent teeth. The treatment proposed was the extraction of all retained primary teeth and the supernumerary teeth, dietary and oral hygiene instructions and orthodontic treatment. Also, important aspects to avoid complications associated with Robinow syndrome were discussed. Conclusion: This case describes uncommon oral findings and some important aspects to avoid complications associated with the Robinow syndrome. Early professional advice, treatment, and periodical follow-ups can improve the quality of life of these patients.


Objetivo: O objetivo deste artigo foi descrever um caso de síndrome de Robinow em um paciente pediátrico. Relato de Caso: Clinicamente, o paciente apresentava bossas frontais, perfil facial plano com macrocefalia, hipoplasia da face média, hipertelorismo, fissuras palpebrais amplas, boca triangular, nariz curto, filtro curto, anquiloglossia, retenção prolongada de dentes decíduos e dentes desalinhados. Os exames radiográficos indicaram a presença de três elementos supranumerários permanentes impactados, agenesia de oito dentes permanentes e encurtamento radicular de todos os dentes permanentes. O tratamento proposto foi a extração de todos os dentes decíduos retidos e os elementos supranumerários, instruções de higiene bucal e dietética e tratamento ortodôntico. Além disso, aspectos importantes para evitar complicações associadas à síndrome de Robinow são discutidos. Conclusão: Este caso descreve achados orais incomuns e alguns aspectos importantes para evitar complicações associadas à síndrome de Robinow. Aconselhamento profissional precoce, tratamento e acompanhamento periódico podem melhorar a qualidade de vida desses pacientes.


Assuntos
Odontopediatria , Síndrome , Saúde Bucal , Assistência Odontológica
8.
Rev. odontol. Univ. Cid. São Paulo (Online) ; 31(1): 6--16, jan.2019. ilus.
Artigo em Inglês, Português | LILACS (Américas), BBO | ID: biblio-1009616

RESUMO

Foram avaliados o conhecimento e as condutas dos enfermeiros da Estratégia de Saúde da Família (ESF) perante a Síndrome Hipertensiva da Gravidez (SHG), no município de Guanambi - BA. Estudo descritivo quantitativo, desenvolvido com 25 enfermeiros que atuam ou atuaram na Estratégia de Saúde da família (ESF). Utilizou-se um questionário semiestruturado, autoaplicável, contendo 14 questões relacionadas à identificação do profissional, conduta e conhecimento sobre SHG. Dados foram analisados por meio de tabelas de distribuição de frequências. Houve predominância do gênero feminino (80,0%), 83,4% tinham mais de 4 anos de formação, 76,0% atuavam na ESF em média 3 anos e 84,0% têm especialização. Identificou-se no período de 12 meses que 08 gestantes apresentaram quadro de SHG, destas, 06 tiveram acompanhamento na atenção secundária e 02 permaneceram com atendimento na ESF. Sobre referência e contra-referência, 64% (16) afirmaram que todas as gestantes continuam as consultas de pré-natal na unidade, 12% (03) relataram que a maioria das gestantes continuam com atendimento na unidade e 06 (24%) afirmaram não continuar. Os enfermeiros apresentaram dificuldades em identificar as complicações e consequências para desenvolvimento de SHG em gestantes atendidas na Estratégia Saúde da Família, sendo a maior dificuldade relacionada ao encaminhamento.


Were evaluated the knowledge and behaviors of nurses of the Family Health Strategy (FHS) in relation to the Hypertensive Pregnancy Syndrome (HPS) in the municipality of Guanambi - BA. This is a quantitative descriptive study developed with 25 nurses who work or have worked in the Family Health Strategy (FHS). A semi-structured, self-administered questionnaire containing 14 questions related to the identification of the professional, conduct, knowledge. Data were analyzed by frequency distribution tables. There was a predominance of female gender (80.0%), 83.4% had more than 4 years of education, 76.0% had a 3-year FHS, and 84.0% had specialization. It was identified in the 12-month period that 08 pregnant women presented SHG, of these, 06 had follow-up in the secondary care and 02 remained with care in the FHS. Regarding reference and contra-referral, 64% (16) stated that all pregnant women continued prenatal visits at the unit, 12% (03) reported that most of the pregnant women still attended the unit and 06 (24%) said not continue. Nurses presented difficulties in identifying complications and consequences for the development of FHS in pregnant women attended in the Family Health Strategy, being the greatest difficulty related to referral.


Assuntos
Estratégia Saúde da Família , Gestantes , Síndrome
10.
Rev. Fac. Cienc. Méd. Univ. Cuenca ; 37(1): 11-19, Junio 2019. tab
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1000432

RESUMO

Objetivo general: determinar la prevalencia del síndrome de sobrecarga en cuidadores familiares de adultos mayores y su relación con factores asociados en el cantón Chordeleg, durante el año 2017. Material y métodos: es un estudio analítico transversal con 123 cuidado-res familiares. Se utilizó el cuestionario del Instituto Nacional de Estadís-ticas y Censos, test de Zarit, índice de Katz y test FF-SIL. Las variables fueron expresadas en porcentajes y en frecuencias absolutas. Los factores asociados fueron evaluados a través de la razón de prevalencia con inter-valo de confianza (95%) y el Chi cuadrado. Resultados: la mayor proporción de individuos tuvo 40 a 59 años de sexo femenino; el 73.17% son casados; el 40.65% tienen estudios primarios incompletos y en la relación con el paciente el 47.15% fueron hijos. El 58.50% de la población del estudio presentó sobrecarga, asociándose a tener más de 5 años como cuidador (RP 1.42 IC95% 1.07-1.88, p=0.003) y a la incapacidad severa y moderada del paciente (RP 2.46, IC95% 1.74 ­ 3.18, p=0.000).Conclusiones: el perfil del cuidador no difiere de otros estudios.Existió una alta prevalencia de síndrome de sobrecarga, asociándose a tener más de 5 años de cuidador y a la incapacidad moderada-severa del paciente.


General objective: to determine the prevalence of Overload syndrome in family caregivers of older adults and its relationship with associated factors in Chordeleg canton during 2017.Material and methods: it is a transversal analytical study with 123 family caregivers. The questionnaire of the National Institute of Statistics and Censuses, the Zarit test, the Katz index and the FF-SIL test were used. The variables were expressed in per-centages and absolute frequencies. The associated factors were evaluated through the Prevalence Ra-tio with a confidence interval (95%) and Chi square.Results: the highest proportion of individuals was between 40 and 59 years of age; the 73.17% are married; 40.65% had incomplete primary studies and in the relationship with the patient, the 47.15% were children. The 58.50% of the study population showed overload, they have been associated with having more than 5 years as a caregiver (RR 1.42 IC95% 1.07-1.88, p = 0.003) and the severe and moderate disability of the patient (RP 2.46, 95% CI 1.74-3.18, p = 0.000).Conclusions: the caregiver profile does not differ from other studies. There was a high prevalence of Overload syndrome, which is associated with having more than 5 years as a caregiver and the moderate-severe disability of the patient.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Estresse Psicológico , Idoso , Cuidadores , Síndrome , Prevalência , Múltiplas Afecções Crônicas
13.
Rev. medica electron ; 41(2): 522-529, mar.-abr. 2019. graf
Artigo em Espanhol | LILACS (Américas), CUMED | ID: biblio-1004284

RESUMO

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso.


ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.


Assuntos
Humanos , Feminino , Criança , Transtornos Psicomotores/diagnóstico , Síndrome , Nevo Azul/diagnóstico , Nevo Azul/microbiologia , Nevo Azul/diagnóstico por imagem , Hemangioma/diagnóstico , Hemangioma/microbiologia , Hemangioma/diagnóstico por imagem , Nevo Azul/reabilitação , Epilepsia/diagnóstico
14.
Rev. cir. (Impr.) ; 71(2): 178-186, abr. 2019. tab, ilus
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1058253

RESUMO

En los últimos 30 años el tratamiento del cáncer del recto ha mejorado significativamente gracias al manejo multidisciplinario y a la introducción del concepto de resección total del mesorrecto (RTM), logrando disminuir las tasas de recidiva local y aumentar la sobrevida. Si bien los avances oncológicos y técnicos en términos de tasas de conservación del esfínter anal son innegables, las secuelas funcionales son significativas, especialmente las relacionadas a la función intestinal, sexual y urinaria. Hasta un 90% de los pacientes sometidos a una RTM refiere secuelas intestinales cuyos síntomas se conocen como el síndrome de la resección anterior baja (SRAB). Recientemente se han diseñado sistemas de valoración específicos que han evidenciado su alta incidencia y prevalencia. En esta revisión se entrega una mirada actualizada de la fisiopatología, factores de riesgo, formas de presentación, evaluación clínica y las distintas alternativas de prevención y tratamiento del SRAB.


In the last 30 years, oncologic outcomes of rectal cancer treatment have been significantly improved due to multimodal management and the introduction of the concept of total mesorectum excision. Although the improvements in oncological treatment and surgical techniques are undeniable, multimodal treatment results in the onset of disorders of the intestinal, sexual and urinary function in a high proportion of these patients. Up to 90% of patients undergoing a low anterior resection refer bowel disorders such as fecal incontinence, urgency, increased frequency and fragmentation of defecation. These elements are included in an entity known as the low anterior resection syndrome and specific assessment tools have been designed recently, evidencing the high incidence and prevalence of this syndrome. In the present review, we update the pathophysiology, risk factors, clinical presentation, evaluation and the alternatives of prevention and treatment of low anterior resection syndrome.


Assuntos
Humanos , Masculino , Feminino , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Neoplasias Retais/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Canal Anal/cirurgia , Canal Anal/fisiopatologia , Síndrome , Fatores de Risco , Incontinência Fecal/etiologia
15.
Rev. bras. psiquiatr ; 41(1): 15-21, Jan.-Mar. 2019. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-985361

RESUMO

Objective: Disorders characterized by "distressing unexplained somatic symptoms" are challenging. In the ICD-11 Primary Health Care (PHC) Guidelines for Diagnosis and Management of Mental Disorders (ICD-11 PHC), a new category, bodily stress syndrome (BSS), was included to diagnose patients presenting unexplained somatic symptoms. The present study investigated the association of BSS with anxiety, depression, and four subgroups of physical symptoms in a Brazilian primary health care (PHC) sample. Methodology: As part of the international ICD-11 PHC study, 338 patients were evaluated by their primary care physicians, followed by testing with Clinical Interview Schedule (CIS-R) and World Health Organization Disability Assessment Schedule, Version 2.0 (WHODAS 2.0). BSS was diagnosed in the presence of at least three somatic symptoms associated with incapacity. The association between anxiety, depression, and four subgroups of physical symptoms with being a BSS case was analyzed. Results: The number of somatic symptoms was high in the overall sample of 338 patients (mean = 8.4), but even higher in the 131 BSS patients (10.2; p < 0.001). Most BSS patients (57.3%) had at least three symptoms from two, three, or four subgroups, and these were associated with anxiety and depression in 80.9% of these patients. The symptom subgroup most strongly associated with "being a BSS" case was the non-specific group (OR = 6.51; 95%CI 1.65-24.34), followed by musculoskeletal (OR = 2,31; 95%CI 1.19-4.72). Conclusion: Somatic symptoms were frequent in a sample of PHC patients in Brazil. In the present sample, one third were BSS cases and met the criteria for at least two symptom subgroups, supporting the hypothesis that different functional symptoms are related to each other.


Assuntos
Humanos , Masculino , Feminino , Transtornos de Ansiedade/diagnóstico , Transtornos Somatoformes/diagnóstico , Classificação Internacional de Doenças , Transtorno Depressivo/diagnóstico , Transtornos de Ansiedade/classificação , Atenção Primária à Saúde , Transtornos Somatoformes/classificação , Síndrome , Estudos Transversais , Transtorno Depressivo/classificação , Pessoa de Meia-Idade
16.
Rev. bras. oftalmol ; 78(1): 62-64, jan.-fev. 2019. graf
Artigo em Português | LILACS (Américas) | ID: biblio-990788

RESUMO

Resumo A Síndrome de Blau é uma doença de caráter hereditário autossômico dominante a qual também pode ocorrer de forma esporádica via mutação "de novo". Em geral, tem aparecimento precoce ainda na primeira infância e sua tríade clássica inclui artrite, dermatite e uveíte. Este trabalho visa relatar as manifestações clínicas e principalmente oftalmológicas de uma paciente diagnosticada com Síndrome de Blau com ênfase ao achado incomum de infiltrados corneanos subepiteliais, raramente descrito na literatura.


Abstract The Blau syndrome is an autosomal dominant hereditary disease which can also occur sporadically via "de novo" mutation. Overall it has early onset and its classic triad includes arthritis, dermatitis and uveitis. This paper describes clinical and mainly especially ophthalmologic manifestations of a patient diagnosed with Blau syndrome with emphasis on an uncommon finding of corneal subepithelial infiltrates, rarely described in the literature.


Assuntos
Humanos , Feminino , Adolescente , Artrite/genética , Uveíte/etiologia , Uveíte/genética , Córnea , Dermatite/genética , Mutação , Síndrome
17.
VozAndes ; 30(1): 19-25, 2019.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1048002

RESUMO

El síndrome de Blue Rubber Bleb Nevus (BRBNS) o su acrónimo Síndrome de Bean se caracteriza por malformaciones venosas (MV) distribuidas en múltiples zonas anatómicas, con predominio en piel y tracto gastrointestinal (GI). La sintomatología se manifesta comúnmente con episodios hemorrágicos y consecuente anemia crónica secundaria por défcit. Se presenta el caso clínico de una paciente albina de sexo femenino de 68 años de edad, quien acudió por dolor abdominal agudo más rectorragia crónica, al realizar el examen físico llama la atención la presencia de malformaciones venosas (MV) caracterizadas por nódulos azulados, compresibles y heterogéneos, localizados en labio inferior, mentón, región perianal y extremidades, además de dolor a la palpación en hipocondrio derecho. El análisis de laboratorio reveló valores de hemoglobina y hematocrito bajos y otros parámetros sugerentes de anemia por défcit de hierro, en el reporte de colonoscopia se lograron evidenciar múltiples malformaciones venosas (MV), diseminadas con predominio rectal, el diagnóstico fue compatible con Síndrome de Bean por la asociación de MV en piel y tracto Gastrointestinal, además de anemia crónica secundaria. El manejo fue clínico sintomático y quirúrgico paliativo, con una evolución favorable. La asociación de albinismo y el síndrome de Bean no están reportadas en la literatura médica internacional, considerándose este el primer caso en Ecuador como una patología no muy frecuente, pero con complicaciones secundarias importantes. Se debería incluir este síndrome como una causa de malformaciones venosas inocuas, sangrado digestivo, anemia crónica y efectos oclusivos de vísceras huecas.


Blue Rubber Bleb Nevus syndrome (BRBNS) or its acronym Bean syndrome is characterized by venous malformations (MV) distributed in multiple anatomical areas, predominantly in the skin and gastrointestinal (GI) tract. Symptomatology is commonly manifested with hemorrhagic episodes and consequent chronic secondary anemia due to defcit. We present the clinical case of a female albino patient of 68 years of age, who came for acute abdominal pain to this we add a chronic rectorrhagia, when performing the physical examination, the presence of venous malformations (MV) characterized by bluish, compressible and heterogeneous nodules, located in the lower lip, chin, perianal region and extremities, as well as pain on palpation in the right hypochondrium. The laboratory analysis revealed low hemoglobin and hematocrit values and other parameters suggestive of iron defciency anemia, in the colonoscopy report multiple venous malformations (MV) were disseminated, disseminated with rectal predominance, the diagnosis was compatible with Bean Syndrome by the association of MV in skin and Gastrointestinal tract and secondary chronic anemia. The management was clinical symptomatic and palliative surgery, with a favorable evolution. The association of albinism and Bean syndrome are not reported in the international medical literature, considering this the frst case in Ecuador as a not very frequent pathology but with important secondary complications, this syndrome should be included as a cause of harmless venous malformations, digestive bleeding, chronic anemia and occlusive effects of hollow viscera.


Assuntos
Síndrome , Albinismo , Hemorragia , Disbindina , Anemia
18.
São Paulo; s.n; 2019. 247 p. ilus, tab, quadros.
Tese em Português | LILACS (Américas), Inca | ID: biblio-1007843

RESUMO

O hepatoblastoma, câncer de fígado mais comum na infância, é um tumor embrionário que se supõe surgir da interrupção da diferenciação hepática durante a embriogênese. O genoma deste tipo tumoral carrega poucas alterações somáticas, principalmente aneuploidias cromossômicas e mutações em CTNNB1. Essa relativa escassez de mutações somáticas representa um desafio à estratificação de risco dos pacientes e ao desenvolvimento de terapias direcionadas. Neste trabalho, investigamos por sequenciamento de exoma o espectro de mutações somáticas em um grupo de 10 hepatoblastomas, pareados com suas respectivas amostras germinativas, incluindo um caso de tumor congênito. Os dados genômicos revelaram que os hepatoblastomas tem número reduzido de mutações somáticas codificadoras não-sinônimas (média de ~6 variantes/tumor, com exclusão do caso congênito), totalizando 94 mutações (92 diferentes) nos 10 tumores, mapeadas em 87 genes. Apenas três genes apresentaram mutações detectadas em mais de uma amostra, CTNNB1, CX3CL1 e CEP164. As mutações foram validadas pelo sequenciamento de um painel composto pelos genes identificados no exoma, também utilizado para investigar estes genes em um grupo adicional de 12 tumores; apenas mutações em CTNNB1 foram detectadas neste grupo adicional. Mutações somáticas em CTNNB1 foram detectadas em ~54% do grupo estudado (22 hepatoblastomas): sete variantes patogênicas do tipo nucleotídeo único (SNV) ou indel foram identificadas em oito hepatoblastomas (~36%), uma delas nunca previamente descrita (A21_S33del); deleções intragênicas foram detectadas por sequenciamento Sanger em quatro outros tumores (~18%). A proteína ß-catenina foi avaliada por imunohistoquímica, apresentando translocação para o núcleo, o que indica ativação da via WNT; esse resultado também foi observado em tumores nos quais mutações em CTNNB1 não foram detectadas. O principal achado do estudo do exoma de hepatoblastomas foi a identificação de uma mutação somática recorrente no éxon 3 do gene CX3CL1 (A235G), observada em dois diferentes tumores. A análise de expressão gênica e proteica de CX3CL1 e de seu receptor CX3CR1 revelou aumento de expressão de CX3CL1 em hepatoblastomas; este resultado foi replicado em duas coortes independentes. O detalhamento da análise evidenciou um padrão bimodal: (a) linfócitos infiltrados em regiões tumorais de inflamação pós-quimioterapia eram negativos para essas proteínas, que deveriam estar expressas neste tipo celular em condições normais, enquanto as células tumorais as expressavam; (b) nas áreas de necrose tumoral pós-quimioterapia, houve detecção das proteínas CX3CL1/CX3CR1 nos linfócitos, mas não nas células tumorais. Em conjunto, estes resultados sugerem que a ativação da via CX3CL1/CX3CR1 ocorre em parte dos hepatoblastomas, independentemente da detecção de mutações, o que parece ser um achado relevante, potencialmente relacionado a inflamação e/ou resistência à quimioterapia. Adicionalmente, três assinaturas mutacionais foram detectadas nos hepatoblastomas, duas delas com predomínio das assinaturas do COSMIC, HB-S1 (COSMIC 1 e 6, presentes em todos os tipos de câncer) e HB-S2, com similaridades à assinatura COSMIC 29, relacionada apenas a carcinoma oral de células escamosas (gengivo-bucal) associado ao hábito de mascar tabaco; uma nova assinatura mutacional foi observada em um subconjunto de hepatoblastomas (HB-S3), com padrão inespecífico de pequeno aumento de mutações C>A. As assinaturas mutacionais já relatadas para câncer de fígado não foram evidentes nestes hepatoblastomas, sugerindo um processo mutacional diferente em sua origem. Por fim, análise de mutações germinativas no caso de hepatoblastoma congênito levou à identificação de variantes germinativas em genes de predisposição a câncer (BRCA1 e FAH), levantando a questão do papel da predisposição genética no desenvolvimento destes tumores embrionários (AU)


Hepatoblastoma, the most common liver cancer in infancy, is an embryonal tumor supposed to arise from differentiation impairment during embryogenesis. Hepatoblastomas genomes carry few somatic changes, mainly chromosomal aneuploidies and mutations in the CTNNB1 gene. This relative paucity of somatic mutations poses a challenge to risk stratification and development of targeted therapies. In this work, we investigated the burden of somatic mutations in a cohort of 10 hepatoblastomas paired with their respective germline samples, including a case of congenital tumor. Data revealed a low number of non-synonymous somatic coding mutations (mean of ~6 variants/tumor), totalizing 94 mutations in the 10 tumors, mapped in 87 genes; only three genes exhibited mutations detected in more than one sample, CTNNB1, CX3CL1 and CEP164. Target sequencing was used for validation and screening of the mutated genes in an additional group of 12 tumors; only CTNNB1 mutations were detected in this additional group. CTNNB1 mutations were detected in ~54% of the cohort (22 hepatoblastomas): seven single nucleotide variant or indel mutations were identified in eight hepatoblastomas (~36%), including the A21_S33del mutation, not previously reported; intragenic deletions were detected by Sanger sequencing in 4 tumors (~18%). The ß-catenin protein was evaluated by immunohistochemistry, presenting translocation to the nucleus, indicating activation of the WNT pathway; this result was also observed in tumors without CTNNB1 mutations. The main finding of the exome study was the identification of a recurrent somatic mutation in the exon 3 of the CX3CL1 gene (A235G) in two different hepatoblastomas. Gene expression and protein analysis of CX3CL1 and its receptor CX3CR1 revealed increased expression of CX3CL1 in hepatoblastomas, a result that was replicated in two independent cohorts. A bimodal pattern of expression was observed: (a) lymphocytes infiltrated in tumor regions of inflammation post-chemotherapy were negative for these proteins, which should be expressed in this cell type under normal conditions, while the tumor cells expressed them; (b) in areas of tumor necrosis after chemotherapy, CX3CL1/CX3CR1 proteins were detected in lymphocytes, but not in tumor cells. Taken together, these results suggest that activation of the CX3CL1/CX3CR1 pathway occurs in part of the hepatoblastomas, regardless of mutation detection, potentially related to inflammation and/or resistance to chemotherapy. Additionally, three mutational signatures were detected, two of them with a predominance of signatures of COSMIC, HB-S1 (COSMIC 1 and 6, present in all types of cancer) and HB-S2 (COSMIC 29 signature, related only to oral cell carcinoma gingival-buccal associated with the habit of chewing tobacco). A new mutational signature was observed in a subset of hepatoblastomas (HB-S3), with a non-specific pattern of small increase in C>A mutations. Mutational signatures already reported for liver cancer were not evident in these hepatoblastomas, suggesting a different mutational process. Finally, an exploration of germline mutations in the congenital hepatoblastoma led to the identification of variants in genes of cancer predisposition (BRCA1 and FAH), raising the question of the role of genetic predisposition in the development of these embryonal tumors (AU)


Assuntos
Humanos , Masculino , Feminino , Síndrome , Hepatoblastoma , Carcinoma Embrionário , Genômica , Quimiocina CX3CL1 , Via de Sinalização Wnt , Sequenciamento Completo do Exoma , Neoplasias Hepáticas/fisiopatologia , Neoplasias Hepáticas/genética , Mutação/genética
19.
Bulletin of the World Health Organization ; 97(1), p.42-50, fig., tab., 2019
Artigo em Inglês | AIM (África) | ID: afr-200010

RESUMO

Objective To estimate the association between legal age of consent and coverage of human immunodeficiency virus (HIV) testing among adolescents in countries with high HIV-burden. Methods We analysed data from adolescents aged 15–18 years, who participated in Demographic and Health Surveys or AIDS Indicator Surveys between 2011 and 2016, in 15 sub-Saharan African countries. To improve balance in the distribution of measured individual- and country-level haracteristics, we used propensity score matching between adolescents in countries with more versus less restrictive ageof-consent laws (≤15 years versus ≥16 years). We estimated the percentage of individuals who self-reported that they have done an HIV test in the past 12 months and compared the differences in such testing rates among adolescents exposed to lower versus higher age-ofconsent laws. We also investigated effect modifications by sex and age. Findings Legal age of consent below 16 years was associated with an 11.0 percentage points higher coverage of HIV testing (95% confidence interval, CI: 7.2 to 14.8), corresponding to a rate ratio of 1.74 (95% CI: 1.35 to 2.13). HIV testing rate had a stronger association with lower age of consent among females than males. The testing rates differences were 14.0 percentage points (95% CI: 8.6 to 19.4) for females and 6.9 percentage points (95% CI: 1.6 to 12.2) for males (P-value for homogeneity=0.07). Conclusion This study provides evidence to support the recent World Health Organization’s recommendations that countries should examine current laws and address age-related barriers to uptake of sexual and reproductive health services.


Assuntos
HIV , Infecções/diagnóstico , Síndrome , Adolescente , Pais , Criança , África , África do Norte
20.
Journal of Applied Sciences and Environmental Management; 23(1), p.47-52, tab., 2019
em Inglês | AIM (África) | ID: afr-200067

RESUMO

ABSTRACT: In many parts of the world, HIV/AIDS has gained pandemic dimension covering large areas and continues to spread. There are reports that worldwide, 45% of people contracting HIV/AIDS are adolescents aged between 15 and 24 years. The presence of HIV/AIDS epidemic in Nigeria elicited similar response to that experienced by many countries in Africa, and indeed, the world: denial, acceptance and finally actions to fight the scourge. Since adolescents appear to be vulnerable to HIV/AIDS infection, this study ascertained the knowledge of HIV/AIDS infection among secondary school students in Abuja. A descriptive survey design was employed. Using multistage sampling technique, 602 senior secondary school students in Abuja were selected to participate in the study. A self-developed validated questionnaire was used to collect data and data was analysed using mean, frequency counts, percentages to describe the data and ANOVA, t-test and regression were used to analyse hypotheses and question set at 0.05 significant level. The major findings were that the students of older age group had knowledge of HIV/AIDS (p < 0.05) and the younger age group did not have knowledge; Male students appear more knowledgeable than the female students (p < 0.05); gender, class and religion had influence on the knowledge of the students on HIV/AIDS (P < 0.05). In conclusion, Gender and Demographic Variables continue to limit the awareness of secondary school students on HIV/AIDS infection. Stakeholders must be involved in the proactive advocy and education of secondary school students on HIV/AIDS in order to gain adequate knowledge


Assuntos
Conhecimento , HIV , Infecções , Síndrome , Instituições Acadêmicas , Nigéria
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